Prolactin deficiency with obesity and enlarged testes

MedGen UID:: 341515
•Concept ID:: C1849698
•: Disease or Syndrome

Synonym:	PRL DEFICIENCY WITH OBESITY AND ENLARGED TESTES

Monarch Initiative:	MONDO:0009912
OMIM®:	264120

Clinical features

From HPO

Macroorchidism

MedGen UID:: 224727
•Concept ID:: C1263023
•: Finding

The presence of abnormally large testes.

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Obesity

MedGen UID:: 18127
•Concept ID:: C0028754
•: Disease or Syndrome

Accumulation of substantial excess body fat.

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Intellectual disability, borderline

MedGen UID:: 507499
•Concept ID:: C0006009
•: Finding

Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.

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Isolated prolactin deficiency

MedGen UID:: 75758
•Concept ID:: C0271586
•: Finding

A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.

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Abnormality of the genitourinary system
- Macroorchidism
Abnormality of the nervous system
- Intellectual disability, borderline
- Isolated prolactin deficiency
Growth abnormality
- Obesity

Recent clinical studies

Diagnosis

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.

Ghanny S, Zidell A, Pedro H, Joustra SD, Losekoot M, Wit JM, Aisenberg J
J Clin Res Pediatr Endocrinol 2021 Nov 25;13(4):461-467. Epub 2020 Oct 13 doi: 10.4274/jcrpe.galenos.2020.2020.0125. PMID: 33045800 Free PMC Article

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Clinical prediction guides

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.

See all (1)

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Prolactin deficiency with obesity and enlarged testes

Clinical features

Recent clinical studies

Diagnosis

Clinical prediction guides

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